Association between Polymorphism of the Vitamin D Metabolism Gene CYP27B1 and HLA-B27-Associated Uveitis. Is a State of Relative Immunodeficiency Pathogenic in HLA B27-Positive Uveitis?

Steinwender, Gernot; Lindner, Ewald; Weger, Martin; Plainer, Sophie; Renner, Wilfried; Ardjomand, Navid; El-Shabrawi, Yosuf
April 2013
PLoS ONE;Apr2013, Vol. 8 Issue 4, p1
Academic Journal
Objective: Polymorphisms of the vitamin D metabolism gene CYP27B1 showed associations with multiple autoimmune diseases. The aim of this study was to investigate a possible association between the rs703842 A>G polymorphism of the CYP27B1 gene and HLA-B27-associated uveitis. Design: One hundred fifty-nine patients with HLA-B27-associated uveitis, 138 HLA-B27-negative controls and 100 HLA-B27-positive controls were recruited for this retrospective case-control study. Main outcome parameters were genotype distribution and allelic frequencies determined by polymerase chain reaction. Results: Carriers of the rs703842G allele were found significantly more often in patients with HLA-B27-associated uveitis than in HLA-B27-positive controls (p = 0.03). Between patients and HLA-B27-negative controls no significant difference in the genotype distribution of the rs703842 A>G polymorphism was found (p = 0.97). Conclusions: Our data suggest that the rs703842 A>G polymorphism may play a role in HLA-B27-associated uveitis.


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